title: X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
mesh_terms: D001120:Arginine / Q000737:chemistry; D041321:Chromosomes, Human, X; D003545:Cysteine / Q000737:chemistry; D004247:DNA / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005434:Flow Cytometry; D005817:Genetic Counseling / Q000379:methods*; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007136:Immunoglobulins / Q000378:metabolism; D016130:Immunophenotyping / Q000379:methods; D007723:Korea; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011971:Receptors, Immunologic / Q000235:genetics*; D017422:Sequence Analysis, DNA; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics*; D013997:Time Factors
chemical_list: D007136:Immunoglobulins; D011971:Receptors, Immunologic; D004247:DNA; D001120:Arginine; D003545:Cysteine